Literature DB >> 15793684

Behavioural characteristics and autistic features in individuals with Cohen Syndrome.

Patricia Howlin1, Janne Karpf, Jeremy Turk.   

Abstract

Diagnostic criteria for Cohen Syndrome are based largely on physical characteristics, and systematic information about behaviour and social functioning is limited. Typically, individuals with this condition are described as being very sociable and as showing low rates of pathology. However, recent studies have indicated that behavioural difficulties may occur more frequently than previously suggested and that autistic features may be relatively common. The present investigation of 45 individuals with Cohen Syndrome (age 4-48 years) found that, although 57% of the sample were reported as showing some behavioural disturbance, problems related mainly to anxiety and social interactions; marked anti-social behaviours were rare. Twenty-two individuals met criteria for autism on standardised diagnostic assessments, although the "autistic profile" was somewhat atypical. The implications of these findings for our understanding of Cohen Syndrome are discussed.

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Year:  2005        PMID: 15793684     DOI: 10.1007/s00787-005-0416-4

Source DB:  PubMed          Journal:  Eur Child Adolesc Psychiatry        ISSN: 1018-8827            Impact factor:   4.785


  11 in total

1.  Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.

Authors:  Juha Kolehmainen; Graeme C M Black; Anne Saarinen; Kate Chandler; Jill Clayton-Smith; Ann-Liz Träskelin; Rahat Perveen; Satu Kivitie-Kallio; Reijo Norio; Mette Warburg; Jean-Pierre Fryns; Albert de la Chapelle; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2003-05-02       Impact factor: 11.025

2.  Autistic features in Cohen syndrome: a preliminary report.

Authors:  P Howlin
Journal:  Dev Med Child Neurol       Date:  2001-10       Impact factor: 5.449

3.  Cohen syndrome: the clinical symptoms and stigmata at a young age.

Authors:  J P Fryns; E Legius; K Devriendt; F Meire; L Standaert; E Baten; H Van den Berghe
Journal:  Clin Genet       Date:  1996-05       Impact factor: 4.438

4.  A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies.

Authors:  M M Cohen; B D Hall; D W Smith; C B Graham; K J Lampert
Journal:  J Pediatr       Date:  1973-08       Impact factor: 4.406

5.  The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism.

Authors:  C Lord; S Risi; L Lambrecht; E H Cook; B L Leventhal; P C DiLavore; A Pickles; M Rutter
Journal:  J Autism Dev Disord       Date:  2000-06

6.  Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years.

Authors:  S Kivitie-Kallio; A Larsen; K Kajasto; R Norio
Journal:  Neuropediatrics       Date:  1999-08       Impact factor: 1.947

7.  Intrafamilial variation in Cohen syndrome.

Authors:  I D Young; J R Moore
Journal:  J Med Genet       Date:  1987-08       Impact factor: 6.318

8.  Neuropsychological assessment of a group of UK patients with Cohen syndrome.

Authors:  K E Chandler; M Moffett; J Clayton-Smith; G A Baker
Journal:  Neuropediatrics       Date:  2003-02       Impact factor: 1.947

9.  Identical twins with Cohen syndrome.

Authors:  K N North; A B Fulton; D A Whiteman
Journal:  Am J Med Genet       Date:  1995-07-31

10.  Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders.

Authors:  C Lord; M Rutter; A Le Couteur
Journal:  J Autism Dev Disord       Date:  1994-10
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  6 in total

1.  Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.

Authors:  Iuliana Ionita-Laza; Marinela Capanu; Silvia De Rubeis; Kenneth McCallum; Joseph D Buxbaum
Journal:  PLoS Genet       Date:  2014-12-11       Impact factor: 5.917

2.  Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.

Authors:  Emily L Casanova; Julia L Sharp; Hrishikesh Chakraborty; Nahid Sultana Sumi; Manuel F Casanova
Journal:  Mol Autism       Date:  2016-03-15       Impact factor: 7.509

Review 3.  Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications.

Authors:  Heejeong Yoo
Journal:  Exp Neurobiol       Date:  2015-12-16       Impact factor: 3.261

4.  Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.

Authors:  Jila Dastan; Chieko Chijiwa; Flamingo Tang; Sally Martell; Ying Qiao; Evica Rajcan-Separovic; M E Suzanne Lewis
Journal:  BMC Med Genet       Date:  2016-11-10       Impact factor: 2.103

Review 5.  Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy.

Authors:  Cyrille Robert; Laurent Pasquier; David Cohen; Mélanie Fradin; Roberto Canitano; Léna Damaj; Sylvie Odent; Sylvie Tordjman
Journal:  Int J Mol Sci       Date:  2017-03-12       Impact factor: 5.923

Review 6.  Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.

Authors:  Bridget A Fernandez; Stephen W Scherer
Journal:  Dialogues Clin Neurosci       Date:  2017-12       Impact factor: 5.986

  6 in total

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